SEMA4A

Chr 1q22

semaphorin 4A

Aliases:: SemB, FLJ12287, CORD10
MANE:: ENST00000368285.8

OMIM: 607292 ↗NCBI: 64218 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

SEMA4A · Q9H3S1

v62025-08-01

Predicted Aligned Error matrix for SEMA4A — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

84.3/ 100

Confident

761 residues

Confidence breakdown

Very high(≥ 90)62%
Confident(70–90)20%
Low(50–70)7%
Very low(< 50)11%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Retinal disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Glaucoma (developmental)
Structural eye disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

retinitis pigmentosa
0.68
Cone rod dystrophy
0.65
cone-rod dystrophy
0.39
Rod-cone dystrophy
0.39
Retinal dystrophy
0.38
familial colorectal cancer type X
0.37
helicoid peripapillary chorioretinal degeneration
0.36
Posterior column ataxia - retinitis pigmentosa
0.19
eye disorder
0.19
optic atrophy
0.16

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Semaphorin-4A

Cell surface receptor for PLXNB1, PLXNB2, PLXNB3 and PLXND1 that plays an important role in cell-cell signaling (By similarity). Regulates glutamatergic and GABAergic synapse development (By similarity). Promotes the development of inhibitory synapses in a PLXNB1-dependent manner and promotes the development of excitatory synapses in a PLXNB2-dependent manner (By similarity). Plays a role in priming antigen-specific T-cells, promotes differentiation of Th1 T-helper cells, and thereby contributes to adaptive immunity (By similarity). Promotes phosphorylation of TIMD2 (By similarity). Inhibits angiogenesis (By similarity). Promotes axon growth cone collapse (By similarity). Inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons (By similarity)